27-plex SNP种族推断方法的优化及验证

摘要

人类学中常将人群分为东亚黄种人、欧洲白种人和非洲黑种人.27-plex SNP种族推断体系可针对来自东亚、欧洲、非洲及欧亚混合人群的样本进行分型检测进而推断其祖先来源.本研究对该体系获取样本分型后的种族推断分析方法进行了进一步优化,建立了一种基于似然比、祖先成分和种族归类的推断分析方法,并对4个来自东亚、欧洲、非洲及其混合人群的测试样本进行种族来源推断.使用基础参考数据库交叉验证和1010份测试样本验证两种方式进行了种族推断方法流程的评估研究.验证结果表明该方法体系在东亚、欧洲、非洲及欧亚混合人群中的推断准确性均高于99％.本种族推断方法可对DNA来源人的种族信息进行刻画,在人类分子遗传学、法医遗传学等领域有重要的应用价值.%Anthropology generally divides the individuals into the East Asian Mongolia race,European Caucasian race and African Nigro race.The 27-plex single nucleotide polymorphism (SNP) panel for ancestry information has been established to differentiate samples from East Asian,European,African and admixture populations of East Asian and European origin by genotyping and ancestry inference.To infer ancestry for unknown individuals,we established an optimized analysis pipeline based on the likelihood ratio,ancestry component and individual ancestry assignment.Four samples from East Asian,European,African and admixture populations of East Asian and European origin were tested using the optimized analysis pipeline.Cross validation within basic referential database and validation of 1 010 test samples were both used to evaluate the inference process.The results showed that accuracy of the method was higher than 99％ in East Asia,Europe,Africa and admixture populations.The inference method can characterize the ancestry information of DNA donors,and has important practical application values in the field of human molecular and forensic genetics.